Product Details

SNP ID

rs2306900

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:28957348 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCCTCCTACTCAATTGACACTTAC[A/G]GAGACATTTAGGGGCCCGGTCACTC

Phenotype

MIM: 616666

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PHF12 PubMed Links

Gene Details

Gene

PHF12

Gene Name

PHD finger protein 12

There are no transcripts associated with this gene.

Gene

SEZ6

Gene Name

seizure related 6 homolog

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001098635.1	2688	Silent Mutation	CTG,TTG	L832L	NP_001092105.1
NM_001290202.1	2688	Silent Mutation	CTG,TTG	L707L	NP_001277131.1
NM_178860.4	2688	Silent Mutation	CTG,TTG	L832L	NP_849191.3
XM_011524315.1	2688	Silent Mutation	CTG,TTG	L832L	XP_011522617.1
XM_011524317.2	2688	Silent Mutation	CTG,TTG	L832L	XP_011522619.1

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